Allison A Dilliott, Kristina K Zhang, Jian Wang, Agessandro Abrahao, Malcolm A Binns, Sandra E Black, Michael Borrie, Dar Dowlatshahi, Elizabeth Finger, Corinne E Fischer, Andrew Frank, Morris Freedman, David Grimes, Ayman Hassan, Mandar Jog, Sanjeev Kumar, Anthony E Lang, Jennifer Mandzia, Mario Masellis, Stephen H Pasternak, Bruce G Pollock, Tarek K Rajji, Ekaterina Rogaeva, Demetrios J Sahlas, Gustavo Saposnik, Christine Sato, Dallas Seitz, Christen Shoesmith, Thomas D L Steeves, Richard H Swartz, Brian Tan, David F Tang-Wai, Maria C Tartaglia, John Turnbull, Lorne Zinman, Robert A Hegele
BACKGROUND: Although genetic factors are known to contribute to neurodegenerative disease susceptibility, there remains a large amount of heritability unaccounted for across the diagnoses. Copy number variants (CNVs) contribute to these phenotypes, but their presence and influence on disease state remains relatively understudied. METHODS: Here, we applied a depth of coverage approach to detect CNVs in 80 genes previously associated with neurodegenerative disease within participants of the Ontario Neurodegenerative Disease Research Initiative (n = 519)...
August 2022: Molecular Genetics & Genomic Medicine